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Inherited Myopathy of Great Danes (IMGD)
Breed: Great Dane
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
General
Disease Name
Inherited Myopathy of Great Danes (IMGD)
OMIA
1660
Gene Name
BIN1
Mutation
c.962+1309A>G
Mutation 2
IVS10-2A>G
Test Type
Genetic Disease/Disorder
Details
This myopathy is characterised by young dogs presenting with progressive weakness and generalised muscle atrophy. Symptoms are progressive and include muscle wasting, weakness, irregular gait, and exercise-induced tremor. Age of onset from 6 months. Affected pups are normally euthanized by 12 months of age.
Details 2
A myopathy in the Great Dane dog with characteristic pathological and molecular features is reported. Young adults present with progressive weakness and generalised muscle atrophy...The skeletal muscles of affected dogs exhibited increased oxidative fibre phenotype and core fibre lesions characterised by the disruption of the sarcomeric architecture and the accumulation of mitochondrial organelles. Affected muscles displayed co-ordinated expression of genes consistent with a slow-oxidative phenotype, which was possibly a compensatory response to chronic muscle damage. There was disruption of Z-lines in affected muscles which, at the molecular level, manifested as transcriptional dysregulation of several Z-line associated genes, including alpha-actinin, myotilin, desmin, vimentin and telethonin... (From Chang et al, 2009)
Published
Bohm, J., Vasli, N., Maurer, M., Cowling, B., Shelton, G.D., Kress, W., Toussaint, A., Prokic, I., Schara, U., Anderson, T.J., Weis, J., Tiret, L., Laporte, J. : Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy. PLoS Genet 9:e1003430, 2013. Pubmed reference: 23754947. DOI: 10.1371/journal.pgen.1003430.
Published 2
Chang, K.C., McCulloch, M.L., Anderson, T.J. : Molecular and cellular insights into a distinct myopathy of Great Dane dogs. Vet J 183:322-7, 2010. Pubmed reference: 19135395. DOI: 10.1016/j.tvjl.2008.11.013.
Body/System/Process
Muscular
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Great Dane
HSP Test-Specific Data
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Centronuclear Myopathy
Gene Name
BIN1
Mutation
c.962+1309A>G
Nature of test
mutation test
GTP- or Breed-Specific Publications
Bóhm, J., Vasli, N., Maurer, M., Cowling, B., Shelton, G.D., Kress, W., Toussaint, A., Prokic, I., Schara, U., Anderson, T.J., Weis, J., Tiret, L., Laporte, J. : Altered Splicing of the BIN1 Muscle
Application in the Breed
Carriers may be bred to normal animals (N/imgd x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/imgd x N/imgd) nor of affected animals (imgd/imgd). Muscle wasting, weakness, irregular gait, and exercise-induced tremor ( 6 months of age), and affected pups are normally - euthanized by 12 months of age.
Inheritance
AR
FCI Number
235
GTP Breed
Great Dane
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
GTP Disease Name
Centronuclear Myopathy
Gene Name
BIN1
Mutation
IVS10-2A>G
Veterinary Genetics Laboratory
GTP
GTP Name
Veterinary Genetics Laboratory
Breed
OMIA
GTP Disease Name
Centronuclear Myopathy
Gene Name
BIN1
Mutation
c.962+1309A>G
Nature of test
mutation test
GTP- or Breed-Specific Publications
Bóhm J, Vasli N, Maurer M, Cowling B, Shelton GD, Kress W, Toussaint A, Prokic I, Schara U, Anderson TJ, Weis J, Tiret L, Laporte J. Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progresive centronuclear myopathy. PLoS G
Application in the Breed
Carriers may be bred to normal animals (N/imgd x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/imgd x N/imgd) nor of affected animals (imgd/imgd). Muscle wasting, weakness, irregular gait, and exercise-induced tremor ( 6 months of age), and affected pups are normally - euthanized by 12 months of age.
Inheritance
AR
FCI Number
235
GTP Breed
Great Dane
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Centronuclear Myopathy
Gene Name
BIN1
Mutation
c.962+1309A>G
Nature of test
mutation test
FCI Number
235
GTP Breed
Great Dane
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Centronuclear Myopathy
Gene Name
BIN1
Mutation
c.962+1309A>G
Nature of test
mutation test
FCI Number
235
GTP Breed
Great Dane
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
IMGD
Gene Name
BIN1
Mutation
c.786-2A>G
Mutation Comment
g.23522400A>G
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
BIN1
Mutation
c.962+1309A>G
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Centronuclear Myopathy
Gene Name
BIN1
Mutation
c.962+1309A>G
Nature of test
mutation test
This test is outsourced to:
Orivet
FCI Number
235
GTP Breed
Great Dane
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